Category Archives: Gene Medicine

The BioHealth Capital Region (BHCR) and its life science ecosystem have a rich and deep history of pioneering scientific innovation, research, development, and commercialization. The regions history has been written by life science anchor companies, scientific research universities, government research organizations, rich startup culture, and serial entrepreneurs, all of whom have played critical roles in transforming the BHCR into one of the most innovative and productive biocluster in the world.

Contributions to the BHCRs legacy of life science achievement have emerged from all staffing levels, various labs, countless executive teams, numerous entrepreneurs and biohub support organizations. Contributions have arisen from an intricate tapestry of backgrounds and cultures.

Women, in particular, have had a strong hand in shaping the history of the BHCR. In celebration of Womens History Month, were taking a closer look at the achievements of female life science leaders that have laid the groundwork for the next generation of women trailblazers in the BHCR and made the region what it is today.

Dr. Fraser is one of the most influential figures in BHCR history. In 1995, she was the first to map the complete genetic code of a free-living organism while at the Institute for Genomic Research (TIGR) in Rockville, Maryland. It was there that the automation of the DNA sequencing process made the idea of large-scale sequencing efforts tangible. As President and Director of TIGR, Fraser and her team gained worldwide public notoriety for its involvement in the Human Genome Project, which was completed in 2000 with the presentation of a working draft of the fully sequenced human genome.

As a leader, Fraser provided her researchers with the infrastructure to collaborate and apply multi-disciplinary team science and empowered them to think big. She is also most importantly known for how she challenged her team to ask the right questions, which is the root of scientific progress and success.

Her work at TIGR and as part of the Human Genome Project are foundational events in the regions history, as it marked the BHCR as the epicenter of genomic research and helped spark the regions biotech boom. In fact, it was a controversial partnership with TIGR that gave Human Genome Sciences(HGSi) the first opportunity to utilize any sequences emerging from TIGR labs. The mass of genetic information and sequences, especially that associated with diseases, that HGSi acquired catapulted them into biotech history and an important anchor company within the region.

Dr. Fraser is widely viewed as a pioneer and global leader in genomic medicine; she has published approximately 320 scientific publications and edited three books; she is also one of the most widely cited microbiology experts in the world. She founded the Institute for Genome Sciences at the University of Maryland in 1997. The institute currently holds 25 percent of the funding thats been awarded by the Human Microbiome Project and has been referred to as The Big House in genetics.

Dr. Judy Britz is yet another female life science pioneer that put the BHCR on the map. While working as a research scientist at Electro-Nucleonics Inc., Dr. Britz developed one of the first licensed blood screening tests for HIV, and launching a storied career that has spanned approximately 25 years. She is also a serial entrepreneur that has successfully raised $50M in capital and served as the top executive for two highly successful Maryland-located companies.

Dr. Britz was the first woman to lead the states biotech initiative as the first announced Executive Director of the Maryland Biotech Center. The center was launched under the Maryland Department of Commerce to deploy a strategic life science economic development plan under Governor Martin OMalleys $1.3B, 2020 Vision and to be a one-stop-shop and information center to promote and support biotechnology innovation and entrepreneurship in Maryland.

Judy was the first woman to lead Marylands life sciences initiative, bringing industry experience and perspective to the states economic development activities, a focus still maintained under Governor Hogans leadership today, shared Judy Costello, Managing Director, Economic Development BioHealth Innovation, Inc., who served as Deputy Director under Dr. Britz.

Much of the work done by Dr. Britz and her team laid the foundation and seeded the commercialization efforts that have blossomed into the thriving #4 Biotech Hub that we have today.

GeneDx was founded by Dr. Bale and Dr. John Compton in 2000. The company recently celebrated its 20th anniversary. Since its founding, GeneDx has become a global leader in genomics and patient testing. Under her leadership, the Gaithersburg, Maryland company has played an important role in the history of genetic sequencing and the rise of the BHCR as a global biohealth cluster.

GeneDx was the very first company to commercially offer NGS (Next Generation Sequencing) testing in a CLIA (Clinical Laboratory Improvement Amendments) lab and has been at the leading edge of genetic sequencing and testing for two decades. The companys whole exome sequencing program and comprehensive testing capabilities are world-renowned.

Prior to launching GeneDx, Dr. Bale spent 16 years at NIH, the last nine as Head of the Genetic Studies Section in the Laboratory of Skin Biology. She has been a pioneer during her storied career, publishing over 140 papers, chapters and books in the field. Her 35-year career includes deep experience in clinical, cytogenetic, and molecular genetics research.

Prior to being named CEO and Chair of the Board of Sequella in 1999, Dr. Nacy was the Chief Science Officer and an Executive VP at EntreMed, Inc. EntreMed was one of the most influential BHCR companies in the 1990s. EntreMed, MedImmune, Human Genome Sciences and Celera Genomics all played critical roles in creating the globally recognized, top biocluster that the BHCR has become.

After earning her Ph.D. in biology/microbiology from Catholic University, Nacy did her postdoc work at the Walter Reed Army Institute of Research in the Department of Rickettsial Diseases; her postdoc performance earned a full-time position at Walter Reed that started a 17-year career at the institute. After a highly successful run, Nacy left Walter Reed to join EntreMed.

Today, Dr. Nacy leads Rockville, Marylands Sequella, a clinical-stage pharmaceutical company focused on developing better antibiotics to fight drug-resistant bacterial, fungal and parasitic infections. Sequellas pipeline of small molecule infectious disease treatments have the potential to improve the treatment and outcomes for the over 3 billion people worldwide that are impacted by increasingly drug-resistant infectious diseases.

Emmes Corporation is the largest woman-led organization in the BHCR and is headed by Dr. Lindblad, who started her career at Emmes in 1982 as a biostatistician. She has been with Emmes for nearly 40 years, ascending to become VP in 1992, Executive VP in 2006 and ultimately the companys CEO in late summer of 2013.

Dr. Lindblad has published more than 100 publications and presentations has served as a reviewer of grant and contract applications for the National Institutes of Health (NIH) and has chaired or served on Safety and Data Monitoring Committees across multiple disease areas. Emmes is a life science anchor company for the BHCR, employing more than 600 staff globally with its headquarters in Rockville, Maryland.

Under Kings leadership, GlycoMimetics (GMI), an oncology-focused biotech, went public, secured an exclusive global licensing agreement with Pfizer and was instrumental in raising significant amounts of capital for the company. She was also the first woman Chair of Biotechnology Innovation Associations (BIO, 2013-14), where she still plays an active role on BIOs Executive Committee.

A graduate of Dartmouth College and Harvard Business School, King has had a celebrated career in both biopharma and finance. Prior to becoming CEO of GMI, King served as an Executive in Residence for New Enterprise Associates (NEA), one of the leading venture capital firms in the U.S. She has also held the position of Senior Vice President of Novartis-Corporation. King joined Novartis after a remarkable ten year run with Genetic Therapy, Inc. where she was named CEO after helping Genetic Therapy navigate the organization through various growth stages, including the companys sale to Novartis. King was named the Maryland Tech Councils Executive of the Year in 2013, the Top 10 Women in Biotech by FierceBio and has served on multiple boards across her career.

Dr. Connolly has had a pioneering career in the life sciences. She was the very first woman to graduate from Johns Hopkins Universitys Biomedical Engineering Doctoral Program in 1980. She was also a member of the first female undergraduate class entering Stevens Institute of Technology in 1971.

For decades, Dr. Connolly tirelessly worked to build up what is now known as the BHCR. In 1997, shortly before the region gained wider recognition as a biotech hub, she was the first person to be designated the state of Marylands biotechnology representative. Dr. Connollys career has spanned academia, government, and industry, including co-founding a startup and working as the Business Development Director for EntreMed, Inc., an original BHCR anchor company. She is the former Director of Maryland Industrial Partnerships Program (MIPS) and was inducted into the College of Fellows by the American Institute for Medical and Biological Engineering (AIMBE) in 2013.

Dr. Kirschstein played an enormous role in shaping the BHCR as NIH Deputy Director from 1993 to 1999 during the regions early formative years. She also served as Acting Director of NIH in 1993 and from 2000 to 2002. A pathologist by training, she received her medical degree from Tulane University in 1951 and went on to a long, successful career at the Division of Biologics Standards that lasted from 1957 to 1972.

While at the Division of Biologics Standards, Dr. Kirschstein played an important role in testing the safety of viral vaccines and helped select the Sabin polio vaccine for public use. She eventually ascended to Deputy Director of the group in 1972 and was later appointed the Deputy Associate Commissioner for Science at the FDA. In 1974 she became the Director of the National Institute of Medical Sciences at NIH and served in that role for 19 years.

Her awards and accolades are too numerous to list, but one notable honor came in 2000 when she received the Albert B. Sabin Heroes of Science Award from the Americans for Medical Progress Education Foundation.

Lastly, we want to recognize four additional women for their contributions to launching an organization that has impacted thousands of women by promoting careers, leadership, and entrepreneurship for women in the life sciences Women In Bio.

Women In Bio (WIB), one of the most important and influential support organizations for women in the life sciences, was founded in 2002 to help women entrepreneurs and executives in the Baltimore-Washington-Northern Virginia area build successful bioscience-related businesses. WIB started as a BHCR organization but has expanded its footprint to 13 chapters across the U.S. with 225 volunteer leaders and 2,600 members. The non-profit group has created a forum for female life science entrepreneurs and executives based on its core philosophy of women helping women.

WIB founders are Anne Mathias, a local venture capitalist and current Senior Strategist with Vanguard;

Elizabeth Gray, co-founder of Gabriel Pharma and current Partner at Willkie Farr & Gallagher LLP;

Robbie Melton, former Director of Entrepreneurial Innovation at TEDCO and current Director of Kauai County, Hawaiis Office of Economic Development;

and Cynthia W. Hu, COO, and General Counsel at CASI Pharmaceuticals.

In conclusion, we can not fairly capture the true history of life science and the BioHealth Capital Region without giving special recognition to Henrietta Lacks. In 1951 a Johns Hopkins researcher created the first immortal human cell line from cervical cancer cells taken from Lacks. That cell line, known as HeLa, is the oldest and most commonly used human cell line which was essential in developing the polio vaccine and has been used in scientific landmarks such as cloning, gene mapping and in vitro fertilization.

Though she was a black tobacco farmer from southern Virginia, her impact on science and medicine is unquestionable. She never knew that the Doctor took a piece of her tumor that would be used by scientists who had been trying to grow tissues in culture for decades without success. For some reason, that is still unknown, but her cells never died and the first immortal human cell line was born.

Thank you to all of the women who have been so influential in shaping the field of science, the industry of biotechnology and the BioHealth Capital Region.

Steve has over 20 years experience in copywriting, developing brand messaging and creating marketing strategies across a wide range of industries, including the biopharmaceutical, senior living, commercial real estate, IT and renewable energy sectors, among others. He is currently the Principal/Owner of StoryCore, a Frederick, Maryland-based content creation and execution consultancy focused on telling the unique stories of Maryland organizations.

Excerpt from:
Twelve Women Who Have Shaped The History of the BioHealth Capital Region - BioBuzz

Alnylam Pharmaceuticals, Inc. (Nasdaq: ALNY), the leading RNAi therapeutics company, and Gen, a GMP-certified pharmaceutical company specializing in rare diseases, today announced an exclusive Distribution Agreement for ONPATTRO, a first-in-class RNAi therapeutic for the treatment of hATTR amyloidosis in adults with Stage 1 or Stage 2 polyneuropathy.

"Our partnership with Gen enables us to extend access to ONPATTRO to patients suffering from hereditary ATTR (hATTR) amyloidosis with polyneuropathy in Turkey where we currently dont have a presence," said Brendan Martin, Vice President and Acting Head of Canada, Europe, Middle East and Africa, Alnylam Pharmaceuticals. "There are a significant number of patients in Turkey who urgently need new treatment options and we are delighted to partner with Gen to bring ONPATTRO to those in need."

Abidin Glms, CEO of Gen stated: "We are proud of our reputation as one of Turkey's leading specialty pharmaceutical companies and are excited to have partnered with Alnylam. Through collaborations with leading international companies, we aim to bring innovative medicines to patients in Turkey in the fastest and most reliable way possible."

Patients in Turkey were among those who participated in the randomized, double-blind, placebo-controlled, global Phase 3 APOLLO study, the largest-ever study in hATTR amyloidosis patients with polyneuropathy, which led to the approval of ONPATTRO in the U.S. and EU in 2018.

About ONPATTRO (patisiran)

ONPATTRO is an RNAi therapeutic that was approved in the United States and Canada for the treatment of the polyneuropathy of hATTR amyloidosis in adults. ONPATTRO is also approved in the European Union, Switzerland and Brazil for the treatment of hATTR amyloidosis in adults with Stage 1 or Stage 2 polyneuropathy, and in Japan for the treatment of hATTR amyloidosis with polyneuropathy. Based on Nobel Prize-winning science, ONPATTRO is an intravenously administered RNAi therapeutic targeting transthyretin (TTR). It is designed to target and silence TTR messenger RNA, thereby blocking the production of TTR protein before it is made. ONPATTRO blocks the production of TTR in the liver, reducing its accumulation in the bodys tissues in order to halt or slow down the progression of the polyneuropathy associated with the disease. For more information about ONPATTRO, visit ONPATTRO.com.

Important Safety Information (ISI) for ONPATTRO

Infusion-Related Reactions

Infusion-related reactions (IRRs) have been observed in patients treated with patisiran. In a controlled clinical study, 19% of patisiran-treated patients experienced IRRs, compared to 9% of placebo-treated patients. The most common symptoms of IRRs with patisiran were flushing, back pain, nausea, abdominal pain, dyspnoea, and headache. Hypotension, which may include syncope, has also been reported as a symptom of IRRs.

To reduce the risk of IRRs, patients should receive premedication with a corticosteroid, paracetamol, and antihistamines (H1 and H2 blockers) at least 60 minutes prior to patisiran infusion. Monitor patients during the infusion for signs and symptoms of IRRs. If an IRR occurs, consider slowing or interrupting the infusion and instituting medical management as clinically indicated. If the infusion is interrupted, consider resuming at a slower infusion rate only if symptoms have resolved. In the case of a serious or life-threatening IRR, the infusion should be discontinued and not resumed.

Reduced Serum Vitamin A Levels and Recommended Supplementation

Patisiran treatment leads to a decrease in serum vitamin A levels. Patients receiving patisiran should take oral supplementation of approximately 2500 IU vitamin A per day to reduce the potential risk of ocular toxicity due to vitamin A deficiency. Doses higher than 2500 IU vitamin A per day should not be given to try to achieve normal serum vitamin A levels during treatment with patisiran, as serum levels do not reflect the total vitamin A in the body. Patients should be referred to an ophthalmologist if they develop ocular symptoms suggestive of vitamin A deficiency (e.g. including reduced night vision or night blindness, persistent dry eyes, eye inflammation, corneal inflammation or ulceration, corneal thickening or corneal perforation).

Story continues

Adverse Reactions

The most common adverse reactions that occurred in patients treated with patisiran were peripheral oedema (30%) and infusion-related reactions (19%).

About RNAi

RNAi (RNA interference) is a natural cellular process of gene silencing that represents one of the most promising and rapidly advancing frontiers in biology and drug development today. Its discovery has been heralded as "a major scientific breakthrough that happens once every decade or so," and was recognized with the award of the 2006 Nobel Prize for Physiology or Medicine. By harnessing the natural biological process of RNAi occurring in our cells, a new class of medicines, known as RNAi therapeutics, is now a reality. Small interfering RNA (siRNA), the molecules that mediate RNAi and comprise Alnylams RNAi therapeutic platform, function upstream of todays medicines by potently silencing messenger RNA (mRNA) the genetic precursors that encode for disease-causing proteins, thus preventing them from being made. This is a revolutionary approach with the potential to transform the care of patients with genetic and other diseases.

About Alnylam

Alnylam (Nasdaq: ALNY) is leading the translation of RNA interference (RNAi) into a whole new class of innovative medicines with the potential to transform the lives of people afflicted with rare genetic, cardio-metabolic, hepatic infectious, and central nervous system (CNS)/ocular diseases. Based on Nobel Prize-winning science, RNAi therapeutics represent a powerful, clinically validated approach for the treatment of a wide range of severe and debilitating diseases. Founded in 2002, Alnylam is delivering on a bold vision to turn scientific possibility into reality, with a robust RNAi therapeutics platform. Alnylams commercial RNAi therapeutic products are ONPATTRO (patisiran), approved in the U.S., EU, Canada, Japan, Brazil and Switzerland, and GIVLAARI (givosiran), approved in the U.S and the EU. Alnylam has a deep pipeline of investigational medicines, including five product candidates that are in late-stage development. Alnylam is executing on its "Alnylam 2020" strategy of building a multi-product, commercial-stage biopharmaceutical company with a sustainable pipeline of RNAi-based medicines to address the needs of patients who have limited or inadequate treatment options. Alnylam is headquartered in Cambridge, MA.

About Gen

Gen is the fastest growing pharmaceutical company in Turkey. Teamed up with its leading international partners and compliant with ethical and scientific principles, Gen supplies products used in treatment of rare diseases and disorders in different branches and aims to bring these products to patients in the easiest, fastest and most reliable way possible while striving to find and bring new treatments to patients with unmet medical needs. With its GMP certificated production facility based in Ankara, Gen exports its products to different countries and has offices in Ankara (HQ), stanbul, zmir, Trabzon, Azerbaijan, Kazakhstan and Russia with 400+ employees. For more information please visit the Gen website.

Alnylam Forward Looking Statements

Various statements in this release concerning future expectations, plans and prospects, including, without limitation, Alnylam's views and plans with respect to the ability to extend patient access to ONPATTRO in Turkey through the announced Distribution Agreement with Gen, and the number of patients in Turkey within the approved indication for ONPATTRO who are in need of new treatment options, Gens views and plans with respect to the speed and reliability with which it is able to bring innovative medicines to patients in Turkey, and Alnylams expectations regarding the continued execution on its "Alnylam 2020" guidance for the advancement and commercialization of RNAi therapeutics, constitute forward-looking statements for the purposes of the safe harbor provisions under The Private Securities Litigation Reform Act of 1995. Actual results and future plans may differ materially from those indicated by these forward-looking statements as a result of various important risks, uncertainties and other factors, including, without limitation: Alnylam's ability to discover and develop novel drug candidates; the pre-clinical and clinical results for its product candidates, which may not be replicated or continue to occur in other subjects or in additional studies or otherwise support further development of product candidates for a specified indication or at all; actions or advice of regulatory agencies, which may affect the design, initiation, timing, continuation and/or progress of clinical trials or result in the need for additional pre-clinical and/or clinical testing; delays, interruptions or failures in the manufacture and supply of its product candidates or its marketed products, including ONPATTRO in Turkey; obtaining, maintaining and protecting intellectual property; intellectual property matters including potential patent litigation relating to its platform, products or product candidates; obtaining regulatory approval for its product candidates, including lumasiran and product candidates developed in collaboration with others, including inclisiran, and maintaining regulatory approval and obtaining pricing, reimbursement and access for its products, including ONPATTRO and GIVLAARI; progress in continuing to establish a commercial and ex-United States infrastructure, including in Europe; successfully launching, marketing and selling its approved products globally, including ONPATTRO and GIVLAARI, and achieve net product revenues for ONPATTRO within its expected range during 2020; potential risks to Alnylams business, activities and prospects as a result of the COVID-19 pandemic, or delays or interruptions resulting therefrom, including without limitation, any risks affecting access to ONPATTRO in Turkey, Alnylams ability to successfully expand the indication for ONPATTRO in the future; competition from others using technology similar to Alnylam's and others developing products for similar uses; Alnylam's ability to manage its growth and operating expenses within the ranges of its expected guidance and achieve a self-sustainable financial profile in the future, obtain additional funding to support its business activities, and establish and maintain strategic business alliances and new business initiatives; Alnylam's dependence on third parties, including Regeneron, for development, manufacture and distribution of certain products, including eye and CNS products, and Ironwood, for assistance with the education about and promotion of GIVLAARI in the U.S.; the outcome of litigation; the risk of government investigations; and unexpected expenditures, as well as those risks more fully discussed in the "Risk Factors" filed with Alnylam's most recent Annual Report on Form 10-K filed with the Securities and Exchange Commission (SEC) and in other filings that Alnylam makes with the SEC. In addition, any forward-looking statements represent Alnylam's views only as of today and should not be relied upon as representing its views as of any subsequent date. Alnylam explicitly disclaims any obligation, except to the extent required by law, to update any forward-looking statements.

View source version on businesswire.com: https://www.businesswire.com/news/home/20200325005133/en/

Contacts

Alnylam Pharmaceuticals, Inc. Christine Regan Lindenboom(Investors and Media)+1-617-682-4340

Fiona McMillan(Media, Europe)+44 1628 244960

Gen Ayhan Yener, MD(Medical Director)+90 554 566 57 40

See the article here:
Alnylam Pharmaceuticals and Gen Sign Distribution Agreement in Turkey for ONPATTRO (patisiran), the First-in-Class Gene-Silencing RNAi Therapeutic -...

This scanning electron microscope image shows SARS-CoV-2, the virus that causes Covid-19, (round blue objects) emerging from the surface of cells cultured in the lab. SARS-CoV-2, also known as 2019-nCoV, is the virus that causes Covid-19. The virus shown was isolated from a patient in the U.S. Image by the US NIAID (CC BY 2.0)

First published by GroundUp

Are you wondering why you have to wait a few days for the results of the Covid-19 test? One reason is that laboratory technicians must take pains to avoid getting it wrong what are called false negatives, and less often, false positives.

The other reason is that the techniques they use are done in a specialised laboratory, working with very small, precise quantities of what are known as reagents.

The first step is to take a swab from you as shown in this video from the New England Journal of Medicine (the worlds leading medical journal):

It may be a little uncomfortable, but grin and bear it; its for your own good.

You could also provide a sputum sample from your lower respiratory tract if you have a cough. A health worker will decide based on your symptoms, and the guidelines issued by the National Institute of Communicable Diseases (NICD), which route to take.

Looking for the virus

Lab technicians need the swab to check if you have the virus. They do this using a diagnostic test called a real-time reverse-transcription polymerase chain reaction (rRT-PCR) test. To do a PCR diagnostic test, a laboratory technician isolates the genetic material of the virus from the sample you have provided. The PCR technique is well-developed and there is plenty of information about it online.

A virus is a small infectious agent that multiplies in living cells. Viruses contain nucleic acids, which are the building blocks of living organisms. DNA and RNA are the primary nucleic acids. Some viruses may contain single-stranded nucleic acids, others may contain double-stranded nucleic acids. A genome is the complete set of hereditary material in an organism. Some viruses have RNA genomes, while other viruses have DNA genomes. The genomes of some RNA viruses can be translated directly into viral proteins and they serve as a template for genome replication. They are described as positive-sense.

The coronavirus that emerged in late 2019 has a single-strand, positive-sense RNA genome.

PCR is a molecular biology tool that is used to amplify a gene segment from a very small sample of DNA. Many millions of copies are produced, which allows the gene sequence of interest to be studied further.

The first step involves transforming the RNA into DNA using an enzyme called reverse transcriptase. A small amount of DNA is amplified into larger quantities which will be more easily detected. In a standard PCR, the lab technician can only find out the result of the test once it is complete. In a real-time PCR, a camera or detector can watch as the reaction takes place and give real-time feedback on how the test is going.

The waiting period the time you have to wait to get your results may be due to a number of factors all of which contribute to the reliability of your test result. The crucial one is to reduce the risk of getting a false negative (when the PCR test says you dont have the infection, but in fact you do).

According to the NICD, a false negative could occur when the specimen:

Technical reasons inherent in the test, for example virus mutation, may also lead to a false result.

False positives occur less often and may be the result of the slightest of contaminations in the testing process, among other factors.

The World Health Organisation, the Centers for Disease Control and Prevention, and the NICD provide guidance for laboratory testing on their websites. But the Covid-19 virus is new, so testing protocols are being formulated and refined as new knowledge emerges.

Other tests needed

At present, PCR tests can only be done in specialised laboratories. Even putting aside the time it takes to get the sample from the patient to the lab, the fastest available process takes at least four hours to get a result. This time includes the sample preparation and the actual analysis.

The backlog that is building up because of the increased demand for tests could mean the process will, in the short term, probably become slower rather than faster.

Other, quicker, types of tests are needed.

The US Food and Drug Administration (FDA) has in the past few days approved a test developed by molecular diagnostics company Cepheid. It produces a machine called the Gene Xpert, the size of a desktop computer, which can be used in health facilities to do PCR tests for the new coronavirus.

But at this stage it is unclear how well the Cepheid test works, how quickly the company can produce the reagents needed for it, what these will cost and how quickly it can be rolled out across the world.

To permit the use of this test, the FDA, on 29 February, posted new rules allowing emergency use authorisations of coronavirus tests other than the ones made and distributed by the US Centers for Disease Control and Prevention.

The RT-PCR test is recommended by the World Health Organisation.

Another possible way for testing would be that recommended by David Ho, a viral epidemic expert, who suggested antibody testing in his interview with Caltech.

To fight viruses, your body will begin producing antibodies. An antibody is a protective protein produced by your immune system to help it fight this foreign substance. These are usually cheaper and quicker than PCR tests, and can be done at a clinic quickly, with a patient able to get his result before going home.

Reports are emerging of promising antibody tests, but at the time of publication none had been approved. Things are changing quickly, however. For example, on 18 March 2020, researchers posted a preprint on the Medriv website of a serology test which would identify the antibodies within three days of the onset of symptoms. A serology test is a blood test that looks for antibodies in your blood.

The researchers were clear that this was not a clinical trial, but the first development towards such a test.

On March 22, the WHO published its interim guidance for Laboratory testing strategy recommendations for Covid-19. It stipulated that serological assays will play an important role in research and surveillance, but are not recommended for case detection at present.

The role of rapid disposable tests for antigen detection for Covid-19 needs to be evaluated and is not currently recommended for clinical diagnosis pending more evidence on test performance and operational utility.

Behind the scenes

There is a lot more going on behind the scenes in the testing lab than most people realise. Entire teams are working to ensure your results are reliable.

The process, by its very nature, is painstaking and methodical.

But the good news is that throughout the world, scientists are working together, sharing knowledge that is being accrued by the day. Theyre making tests that are quicker, and more reliable.

For informed information on how to proceed for testing, contact the National Institute for Communicable Diseases on its 24-hour toll-free number: 0800 029 999. DM

Fatima Khan has a background in laboratory research and education. She is currently enrolled on Roving Reporters environmental journalism training project. Additional reporting by GroundUp.

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Original post:
Covid-19: Why testing takes time and what to expect - Daily Maverick

The "Beijing Expert Consensus Statement on the Standardized Application of Next-Generation Sequencing Technology in Clinical Tests - Tumor (1st Edition)" has been officially published in Chinese Medical Journal. The drafting of this statement was led by Beijing Center for Clinical Laboratory, Beijing Society of Laboratory Medicine, Capital Medical University-Clinical Laboratory Diagnostics Department, and Beijing Quality Control and Improvement Center for Medical Laboratory Tests. It represents the first authoritative consensus on the standardized application of next-generation sequencing (NGS) technology in oncological clinical practice within China. It consequently serves as a base for standardized operation and management of NGS clinical laboratories. Genetron Holdings Limited ("Genetron Health") has been highly recognized by the drafting agencies, and ranks first place in the acknowledgements for its outstanding contribution.

NGS testing enables detection of somatic mutation in solid tumors; this statement elaborates on its intended clinical use, testing method establishment and optimization, LDTs analytical validation, and key pre-, in- and post-analysis quality assurance steps. Such testing is currently used to provide guidance for tumor targeted medicine and monitoring, as well as to evaluate immunotherapy efficacy. With the emergence of biomarkers, new NGS technology continues to be introduced to clinical testing, and the uses of technology are expected to expand further. The consensus statement will be amended accordingly to adapt to the guidelines for NGS-based tumor gene mutation detection in clinical practice.

Genetron Health is committed to providing quality products and services. The company actively work with institutions, experts and peers to promote the regularized and standardized application of NGS technology, and promote the development of precision medicine to benefit more patients.

About Genetron Health

Genetron Health is a leading and fast-growing precision oncology company in China that aims to provide one-stop genomic profiling solutions for multiple scenarios covering early screening, diagnosis and monitoring, and biopharmaceutical services. The company collaborates with over 400 hospitals and dozens of biopharmaceutical companies and research institutions and has developed a large proprietary genomic database.

Genetron Health has established R&D centers in both the United States and China, two manufacturing facilities with both ISO 13485:2016 certification and ISO 9001:2015 certification in China and five clinical laboratories in Beijing (CLIA accreditation and CAP certification), Shanghai, Hangzhou, Chongqing and Guangzhou. The R&D capacities of Genetron Health are supported by a best-in-class research and development team led by scientists at the forefront of cancer genomics research. The company has published many research papers in highly influential worldwide peer-reviewed scientific journals, such as Nature Genetics, Nature Communications, Cell Research and PNAS.

View source version on businesswire.com: https://www.businesswire.com/news/home/20200320005341/en/

Contacts

For media inquiries, please contact:Huairan LiuE-mail: pr@genetronhealth.com

Excerpt from:
Genetron Health Contributes to Chinas First Expert Consensus Statement on the Standardized Clinical Application of NGS Testing for Oncology - Yahoo...

The Associated Press visited a new intensive care ward in Brescia, one of the hardest-hit provinces in Lombardy. Dr. Sergio Cattaneo, the hospitals head of anesthesiology and intensive care, says hes seen many changes to fight the pandemic. (March 18) AP Domestic

Various claims thatItalians over the age of 80 would be "left to die" have surfaced within the past week on social media, with some posts saying the blame falls on Italy's socialized health care system.

Italy's COVID-19 fatality rate of 5% is higher than the global average of 3.5%. As the country's confirmed cases continue to surge, health officials are scrambling to find adequate resources.

Despite a countrywide lockdown,Italy reached a grave milestone this week when the country's death tollsurpassed China's as of March 19,3,405 people have died.

Italy has an older population,with a median age of 47.3, compared to 38.3 in the United States. Older populations are much more susceptible to complications from COVID-19, and many of the reported deaths in Italy have been people in their 80s and 90s.

The claims of Italy abandoning its elderly population began to surface following a report in the Telegraph about a document prepared by a crisis management unit in Turin, a northern Italiancity hit hard by the virus.

A man wearing a mask rides a scooter in Milan, Italy, March 11, 2020. Italy is mulling even tighter restrictions on daily life and has announced billions in financial relief to cushion economic shocks from the coronavirus. (Photo: Luca Bruno, AP)

The document seen by the Telegraph is a guideline for if and when it"becomes impossible to provide all patients with intensive care service,according to the news outlet, which did not publish a copy of it.

If the crisis reaches a point where health careaccess is too strained and needs to be limited, the document lays out plans for how to prioritize patients.

According to the Telegraph, the document's criteria for intensive therapy in emergency cases includes an age of less than 80 or a score of less than five on the Charlson Comorbidity Index, which indicates a patient's other medical conditions and mortality.

Luigi Icardi, a councilor for health in Piedmont, told the Telegraph that he never wantedthe crisis to reach this point, but that the document "will be binding and will establish, in the event of saturation of the wards, a precedence code for access to intensive care,based on certain parameters such as potential survival."

Italy surpasses China in deaths.(Photo: USA TODAY)

Despite the tentative guidelines in the document, it is not true that Italy as a whole has decided not to treat their elderly for the coronavirus.

The truth is, instead, that overwhelmed Italian health officials are planning for the worst, given the recent influx of cases and lack of available resources. If cases continue to surge, officials might be forced to prioritize care for those with "the best chance of success" and the "best hope of life."

The second part of theclaim that stemmed from the Telegraphreport blamed Italy's socialized health care for the lack of available resources and went viral on Facebook.

One person who posted that claim and saw it go viral, Gene Ballinger,did not respond to request for comment.

Throughout the pandemic, Italy's Prime Minister Giuseppe Contehas remained consistent on his health care promises for all Italians.

"We live in a system in which we guarantee health and the right of everyone to be cured. It's a foundation, a pillar, and I'd say a characteristic of our system of civilization," Conte said in a public statement on March 9. "And thus, we can't allow ourselves to let our guard down."

Health care officials in China were faced with a similar dilemma when the number of cases surpassed the capability of the existing treatment options. As hospitals in China became overwhelmed, patients were forced to wait extended periods of time for treatment.

In the U.S., health care is not socialized.But officials across the country are preparing to facethe same dilemma seen in Italy as cases continue to multiply and available resources deplete.

A new Harvard analysis reveals thathospitals throughout the United States will not have enough beds for patients if the virus continues to spread and capacity is not adequately expanded.

According to the analysis, in 40% of marketsaround the country, hospitals will not be able to make enough room for all patients who fall ill from the coronavirus.

Medical staff work at one of the emergency structures that were set up to ease procedures at the Brescia hospital in northern Italy, March 16, 2020.(Photo: Luca Bruno, AP)

This statistic reflects a "moderate" scenario by the analysis team's standards andassumes 40% of adults will become infected with the virus over the next 12 months.

These numbers are not exact and do not take into account various efforts from hospitals across the country including sending home patients with less critical conditions.

The global push for social distancing, self-isolation and self-quarantine is a preemptive effort to prevent overwhelming health care systems.

The longer the disease takes to spread, the more time hospitals have to accommodate patients. In the United States, officials are attempting to "flatten the curve" and not overwhelm the health care system by closing businesses and schools and canceling large events.

Blaming Italy's socialized health care system for the lack of availableresources doesn't hold up because nonsocialized health care systems, such as those in the United States, are facing similarshortages.

While some Italian health officials are planning for the worst, the health care prioritizationguidelines have not yet been implemented and are influenced bymultiple factors including age, preexisting conditions and available resources. As forthe second claim about socialized health care,Italy's system has become overwhelmed due to the sheer amount of cases and patients, not because of its design. We rate these claims as "false," based on our research.

However, should Italy implement its protocol that triages patients based on age and other conditions, we would change the rating of these claims to "partly false."

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Fact check: Were elderly Italians left to die? And is socialized health care to blame? - USA TODAY

By Dawn Fallik March 19, 2020

The woman who is associated with the eponymous Louis-Bar syndrome is the subject for discussionand an awardabout the challenges for a woman in neurology from an earlier era.

When Elizabeth A. Coon, MD, started researching Denise Louis-Bar, MD, the neurologist who helped define the eponymous pediatric neurologic syndrome, Dr. Coon wasn't sure if she'd chosen the right subject.

As an adult neurologist, Dr. Coon, an assistant professor of neurology at Mayo Clinic in Rochester, MN, had never met someone with the disease Dr. Louis-Bar helped discoverataxia telangiectasia. But that very afternoon in her clinic, she met a gentleman with familial ataxia and ocular telangiectasia, which has symptoms very similar to those in Louis-Bar syndrome.

It was meant to be, Dr. Coon said.

Her paper on Dr. Louis-Bar was published in Neurology in 2018. But this year, Dr. Coon is receiving the AAN McHenry Award in History for her research on the neurologist behind ataxia telangiectasia. The disease is caused by mutations in the ATM gene and appears as an early-onset multisystem neurodegenerative disorder, characterized by a progressive lack of coordination that appears in toddlers when they are starting to learn to walk. Patients also have a high rate of leukemia or lymphoma.

Dr. Louis-Bar first described the disorder in 1941 in the international journal Confinia Neurologica, published in Switzerland. She was 27 years old at the time. But as the Neurology article noted, she never really received credit for naming the disorder. Indeed, a citation in the Neurology article pulled from the literature underscores how being a woman in medicine at the time was perceived: Dr. M. Reznik recalled Louis-Bar during her time in Lige: I have really known Mrs. Louis-Bar when, myself a young student, she was a senior assistant at the Brull service. One recognized her by her lush red hair. As the article noted Dr. Louis-Bar had become a neuropsychiatrist within the department of internal medicine with renowned physiologist Professor Lucien Brull at the State University of Lige.

Dr. Coon discussed with Neurology Today what she learned about Dr. Louis-Bar and how it has influenced her own role as a neurologist today. Her excerpted remarks appear below.

I've been interested in medicine since I was a teenager. My uncle was in family medicine and I knew I wanted to care for people, but also be involved in a scientific and rigorous field. My interest in neurology arose from personal experiences. I remember as an undergrad, I was working in a research lab studying DNA sequences in zebrafish that had neurological disorders. I was also shadowing Hank Paulson [Henry Paulson, MD, PhD] who was caring for patients with Huntington's disease in a multidisciplinary clinic. So in the morning I was looking at genetic code and in the afternoon, I was seeing patients deal with significant symptoms stemming from mutations in their genetic code.

I knew about the disease, ataxia telangiectasia, but I wasn't sure who she was. I thought the disease was named after two different people at first and assumed they were men. But what became really interesting to me was how the disease became named after her. She was not really the first person to describe the diseaseit was two Czech physicians in 1926, but they described it as more of a dystonia-type of disorder and so it wasn't linked with Louis-Bar.

The group who really did the most work on ataxia telangiectasia was out of California in the mid-20th century, led by Dr. Elena Boder, an American pediatric neurologist. There was some controversy about calling the disease Louis-Bar syndrome versus ataxia telangiectasia, because it had been written about by other people, and there was some issue with Dr. Louis-Bar's pathophysiological description of AT. But when you look at the literature, her name still is frequently used.

It doesn't really bother me, as Elena Boder did advance the field significantly and I think that ataxia telangiectasia is a good descriptive name.

Reading between the lines of the historical writing, you get a sense that she wasn't fully part of the medical community of that time. There was a follow-up to the journal article she had written in 1941 from her coworkers and mentor, and they didn't even use her name; there was no description of her work. I feel like maybe she didn't have all the support she could have used.

She was clearly a very accomplished physician and researcher, but in the articles about her, they describe her appearance, particularly that she had lush, red hair. Those physical descriptors bothered me as we know that women are more frequently judged by appearance. She didn't stay in academia; her husband went to Belgium, and she left the academic world when she moved. She continued to practice and developed subspecialty clinics caring for disabled children and adults, which is noble.

When she was in academia, it was a very productive time for her. She later devoted her time to multidisciplinary care, particularly with mentally disabled children and she did amazing work in that regard. She was a very observant clinician and she really did a lot of work in internal medicine and in neurologic disorders, really emphasizing patient care, which demonstrated her diverse abilities and interests.

This is a wonderful time to be a woman in medicine. Women are increasingly in leadership positions and I'm grateful to be in a department led by a woman, Claudia Lucchinetti, MD. Finding mentors who support and help you navigate your career is vital, and I'm also grateful for my many mentors. As a woman, there will be microaggressions and roadblocks along the way, but finding mentors who help you manage and continue moving forward is quintessential.

I would say patients come with a variety of different symptoms and backgrounds. All patients need help in different ways. You have to learn to tailor your approach to the patient. It's not just knowing that a patient has a specific type of disease; it's about having to think about how that disease is affecting that particular patient, how the symptoms are impacting every aspect of their life. I was taught this is in residency with the Sir Williams Osler quote: It is much more important to know what sort of a patient has a disease than what sort of a disease a patient has.

Dr. Coon had no disclosures.

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Have You Heard of the Neurologist Behind Louis-Bar... : Neurology Today - LWW Journals